Canonical Allele Identifier: CA2580099935

Gene: ARSA

Linked Data

• ClinVar Variation Id: 2025551
• ClinVar RCV Id: RCV002853238

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626178_50626179insTCAAGGCA , CM000684.2:g.50626178_50626179insTCAAGGCA	GRCh38
NC_000022.10:g.51064606_51064607insTCAAGGCA , CM000684.1:g.51064606_51064607insTCAAGGCA	GRCh37
NC_000022.9:g.49411472_49411473insTCAAGGCA	NCBI36
NG_009260.2:g.7002_7003insGCCTTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.955_956insGCCTTGAT MANE Select	ENSP00000216124.5:p.Phe319CysfsTer13
ENST00000216124.9:c.955_956insGCCTTGAT	ENSP00000216124.5:p.Phe319CysfsTer13
ENST00000356098.9:c.955_956insGCCTTGAT	ENSP00000348406.5:p.Phe319CysfsTer13
ENST00000395619.3:c.955_956insGCCTTGAT	ENSP00000378981.3:p.Phe319CysfsTer13
ENST00000395621.7:c.955_956insGCCTTGAT	ENSP00000378983.3:p.Phe319CysfsTer13
ENST00000453344.6:c.697_698insGCCTTGAT	ENSP00000412542.2:p.Phe233CysfsTer13
NM_000487.5:c.955_956insGCCTTGAT	NP_000478.3:p.Phe319CysfsTer13
NM_001085425.2:c.955_956insGCCTTGAT	NP_001078894.2:p.Phe319CysfsTer13
NM_001085426.2:c.955_956insGCCTTGAT	NP_001078895.2:p.Phe319CysfsTer13
NM_001085427.2:c.955_956insGCCTTGAT	NP_001078896.2:p.Phe319CysfsTer13
NM_001085428.2:c.697_698insGCCTTGAT	NP_001078897.1:p.Phe233CysfsTer13
XM_011530690.1:c.697_698insGCCTTGAT	XP_011528992.1:p.Phe233CysfsTer13
XM_011530691.1:c.955_956insGCCTTGAT	XP_011528993.1:p.Phe319CysfsTer13
NM_001362782.1:c.697_698insGCCTTGAT	NP_001349711.1:p.Phe233CysfsTer13
XM_011530691.3:c.955_956insGCCTTGAT	XP_011528993.1:p.Phe319CysfsTer13
XM_017028800.1:c.955_956insGCCTTGAT	XP_016884289.1:p.Phe319CysfsTer13
XM_024452241.1:c.955_956insGCCTTGAT	XP_024308009.1:p.Phe319CysfsTer13
NM_000487.6:c.955_956insGCCTTGAT MANE Select	NP_000478.3:p.Phe319CysfsTer13
NM_001085425.3:c.955_956insGCCTTGAT	NP_001078894.2:p.Phe319CysfsTer13
NM_001085426.3:c.955_956insGCCTTGAT	NP_001078895.2:p.Phe319CysfsTer13
NM_001085427.3:c.955_956insGCCTTGAT	NP_001078896.2:p.Phe319CysfsTer13
NM_001085428.3:c.697_698insGCCTTGAT	NP_001078897.1:p.Phe233CysfsTer13
NM_001362782.2:c.697_698insGCCTTGAT	NP_001349711.1:p.Phe233CysfsTer13